Motor neuron susceptibility in ALS/FTD

AMG Ragagnin, S Shadfar, M Vidal… - Frontiers in …, 2019 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the
death of both upper and lower motor neurons (MNs) in the brain, brainstem and spinal cord …

Physiological, pathological, and targetable membraneless organelles in neurons

VH Ryan, NL Fawzi - Trends in neurosciences, 2019 - cell.com
Neurons require unique subcellular compartmentalization to function efficiently. Formed
from proteins and RNAs through liquid–liquid phase separation, membraneless organelles …

KCNJ2 inhibition mitigates mechanical injury in a human brain organoid model of traumatic brain injury

JD Lai, JE Berlind, G Fricklas, C Lie, JP Urenda, K Lam… - Cell Stem Cell, 2024 - cell.com
Traumatic brain injury (TBI) strongly correlates with neurodegenerative disease. However, it
remains unclear which neurodegenerative mechanisms are intrinsic to the brain and which …

From basic research to the clinic: innovative therapies for ALS and FTD in the pipeline

RM Liscic, A Alberici, NJ Cairns, M Romano… - Molecular …, 2020 - Springer
Amyotrophic lateral sclerosis (ALS) and Frontotemporal Degeneration (FTD) are
neurodegenerative disorders, related by deterioration of motor and cognitive functions and …

Dysautonomia in amyotrophic lateral sclerosis

AL Oprisan, BO Popescu - International Journal of Molecular Sciences, 2023 - mdpi.com
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease, characterized in its
typical presentation by a combination of lower and upper motor neuron symptoms, with a …

Retinal damage in amyotrophic lateral sclerosis: underlying mechanisms

VO Soldatov, MS Kukharsky, AE Belykh… - Eye and …, 2021 - Taylor & Francis
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease resulting in a
gradual loss of motor neuron function. Although ophthalmic complaints are not presently …

Genetic modifiers ameliorate endocytic and neuromuscular defects in a model of spinal muscular atrophy

MB Walsh, E Janzen, E Wingrove, S Hosseinibarkooie… - BMC biology, 2020 - Springer
Background Understanding the genetic modifiers of neurodegenerative diseases can
provide insight into the mechanisms underlying these disorders. Here, we examine the …

High-throughput genetic testing in ALS: the challenging path of variant classification considering the ACMG guidelines

S Lattante, G Marangi, PN Doronzio, A Conte… - Genes, 2020 - mdpi.com
The development of high-throughput sequencing technologies and screening of big patient
cohorts with familial and sporadic amyotrophic lateral sclerosis (ALS) led to the identification …

Sex-Specific Early Retinal Dysfunction in Mutant Tdp-43 Transgenic Mice

J Gao, H Leinonen, EJ Wang, M Ding… - Journal of …, 2024 - content.iospress.com
Background: Increasing evidence has highlighted retinal impairments in neurodegenerative
diseases. Dominant mutations in TAR DNA-binding protein 43 (TDP-43) cause amyotrophic …

New roles for canonical transcription factors in repeat expansion diseases

LD Goodman, NM Bonini - Trends in Genetics, 2020 - cell.com
The presence of microsatellite repeat expansions within genes is associated with> 30
neurological diseases. Of interest,(GGGGCC)> 30-repeats within C9orf72 are associated …